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    CTNND2 catenin (cadherin-associated protein), delta 2 [ Homo sapiens (human) ]

    Gene ID: 1501, updated on 5-May-2013
    Official Symbol
    CTNND2provided by HGNC
    Official Full Name
    catenin (cadherin-associated protein), delta 2provided by HGNC
    Primary source
    HGNC:2516
    See related
    Ensembl:ENSG00000169862; HPRD:09181; MIM:604275; Vega:OTTHUMG00000090511
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GT24; NPRAP
    Summary
    This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome.[provided by RefSeq, Aug 2010]
    Location :
    5p15.2
    Sequence :
    Chromosome: 5; NC_000005.9 (10971952..11904110, complement)
    See CTNND2 in Epigenomics, MapViewer

    Chromosome 5 - NC_000005.9Genomic Context describing neighboring genes Neighboring gene intersectin 1 (SH3 domain protein) pseudogene Neighboring gene death-associated protein Neighboring gene chromosome X open reading frame 67 pseudogene Neighboring gene cancer/testis antigen 49 (non-protein coding)

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. Povlsen LK, et al. Nat Cell Biol, 2012 Oct. PMID 23000965.
    2. δ-Catenin is genetically and biologically associated with cortical cataract and future Alzheimer-related structural and functional brain changes. Jun G, et al. PLoS One, 2012. PMID 22984439.
    3. Proteomics strategy to identify substrates of LNX, a PDZ domain-containing E3 ubiquitin ligase. Guo Z, et al. J Proteome Res, 2012 Oct 5. PMID 22889411.
    4. Polymorphisms in the CTNND2 gene and 11q24.1 genomic region are associated with pathological myopia in a Chinese population. Yu Z, et al. Ophthalmologica, 2012. PMID 22759899.
    5. Genome-wide association study of lung function decline in adults with and without asthma. Imboden M, et al. J Allergy Clin Immunol, 2012 May. PMID 22424883.

    See all (51) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Genome-wide significant association with CTNND2 single nucleotide polymorphisms rs17183619, rs13155993 and rs13170756 for the bivariate outcome of cortical cataract and temporal horn volume, is reported.
      Title: δ-Catenin is genetically and biologically associated with cortical cataract and future Alzheimer-related structural and functional brain changes.
    2. Specific polymorphisms in the CTNND2 gene and 11q24.1 genomic region were found to be significantly associated with pathological myopia in this Chinese population.
      Title: Polymorphisms in the CTNND2 gene and 11q24.1 genomic region are associated with pathological myopia in a Chinese population.
    3. Multiple genes linked to Alzheimer's disease are regulated by NPRAP. Furthermore, NPRAP nuclear translocation is required for gene regulation.
      Title: A nuclear function for the presenilin 1 neuronal partner NPRAP/δ-catenin.
    4. These results confirmed the strong association between CTNND2 polymorphism and myopia.
      Title: Replication study supports CTNND2 as a susceptibility gene for high myopia.
    5. The studies support coordinated regulation of delta-catenin expression by both the activating transcription factor E2F1 and repressive transcription factor Hes1 in prostate cancer progression.
      Title: Human homolog of Drosophila Hairy and enhancer of split 1, Hes1, negatively regulates δ-catenin (CTNND2) expression in cooperation with E2F1 in prostate cancer.
    6. This study identified a strong association of CTNND2 for high myopia in Asian datasets. The CTNND2 gene maps to a known high myopia linkage region on chromosome 5p15.
      Title: Genome-wide association studies reveal genetic variants in CTNND2 for high myopia in Singapore Chinese.
    7. The delta catenin is essential for N-cadherin-mediated formation of proper junctional structures and thereby the establishment of the cell polarity.
      Title: p120-Catenin is essential for N-cadherin-mediated formation of proper junctional structure, thereby establishing cell polarity in epithelial cells.
    8. Cells overexpressing delta-catenin have less p120-catenin than control cells at the cell-cell interface, causing the relocalization of p120-catenin from the plasma membrane to the cytosol. CTNND2 binding to E-cadherin adversely affects CTNND1 stability.
      Title: Delta-catenin affects the localization and stability of p120-catenin by competitively interacting with E-cadherin.
    9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    10. Data report that either Pax6(+5a) or Pax6(-5a) was sufficient to promote, whereas their knockdown reduced the expression of delta-catenin (CTNND2), a neural specific member of the armadillo/beta-catenin superfamily.
      Title: Isoform- and dose-sensitive feedback interactions between paired box 6 gene and delta-catenin in cell differentiation and death.
    Submit: New GeneRIF Correction See all (16)

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    NP_001323.1 NP_835260.1 PDZD2    BIND  PubMed PAPIN interacts with NPRAP. This interaction was modeled on a demonstrated interaction between rat PAPIN and NPRAP from an unidentified species. 
    NP_001323.1 NP_000012.1 PSEN1    BIND  PubMed PS1 interacts with NPRAP 
    Q9UQB3 P00519 ABL1    HPRD  PubMed  
    Q9UQB3 P12830 CDH1    HPRD  PubMed  
    Q9UQB3 P19022 CDH2    HPRD  PubMed  
    Q9UQB3 P35222 CTNNB1    HPRD  PubMed  
    Q9UQB3 Q9UQB3 CTNND2    HPRD  PubMed  
    Q9UQB3 Q14247 CTTN    HPRD  PubMed  
    Q9UQB3 Q96RT1 ERBB2IP    HPRD  PubMed  
    Q9UQB3 P06241 FYN    HPRD  PubMed  
    Q9UQB3 P06239 LCK    HPRD  PubMed  
    Q9UQB3 Q96NW7 LRRC7    HPRD  PubMed  
    Q9UQB3 Q86UL8 MAGI2    HPRD  PubMed  
    Q9UQB3 O15018 PDZD2    HPRD  PubMed  
    Q9UQB3 P49768 PSEN1    HPRD  PubMed  
    Q9UQB3 P49810 PSEN2    HPRD  PubMed  
    Q9UQB3 Q9NYA1 SPHK1    HPRD  PubMed  
    BioGRID:107882 BioGRID:108156 ATN1    BioGRID  PubMed Two-hybrid 
    BioGRID:107882 BioGRID:124219 LNX1    BioGRID  PubMed Two-hybrid 
    BioGRID:107882 BioGRID:121610 LRRC7    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:107882 BioGRID:116237 NUDT21    BioGRID  PubMed Two-hybrid 
    BioGRID:107882 BioGRID:116676 PDZD2    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:107882 BioGRID:113127 TTR    BioGRID  PubMed Two-hybrid 
    BioGRID:107882 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107882 BioGRID:115327 ZBTB33    BioGRID  PubMed Affinity Capture-Western 

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    cell adhesion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    learning IEA
    Inferred from Electronic Annotation
    more info
    		  
    morphogenesis of a branching structure IEA
    Inferred from Electronic Annotation
    more info
    		  
    multicellular organismal development IEA
    Inferred from Electronic Annotation
    more info
    		  
    neuron cell-cell adhesion NAS
    Non-traceable Author Statement
    more info
    		  
    regulation of synaptic plasticity IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    adherens junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasm TAS
    Traceable Author Statement
    more info
    		 PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    perikaryon IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    catenin delta-2
    Names
    catenin delta-2
    neurojungin
    T-cell delta-catenin
    catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023544.1 RefSeqGene

      Range
      5001..937159
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001332.2 → NP_001323.1  catenin delta-2

      Status: REVIEWED

      Source sequence(s)
      AB013805, BF512945, U52351, U96136
      Consensus CDS
      CCDS3881.1
      UniProtKB/Swiss-Prot
      Q9UQB3
      Related
      ENSP00000307134, OTTHUMP00000115594, ENST00000304623, OTTHUMT00000206999
      Conserved Domains (1) summary
      cd00020
      Location:544 – 666
      Blast Score: 286
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000005.9 Reference GRCh37.p10 Primary Assembly

      Range
      10971952..11904110, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000137.1 Alternate HuRef

      Range
      10955380..11886519, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018916.1 Alternate CHM1_1.0

      Range
      10930136..11861328, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01020607.1 (300489..319871) None
    genomic ABBA01020608.1 None
    genomic ABBA01020609.1 None
    genomic ABBA01020610.1 None
    genomic ABBA01020611.1 None
    genomic ABBA01020612.1 None
    genomic ABBA01020613.1 None
    genomic ABBA01020614.1 None
    genomic AC003089.1 AAB83940.1
    genomic AC003954.1 None
    genomic AC004633.1 (1901..36225) None
    genomic AC004648.1 None
    genomic AC005367.1 (463..81587) None
    genomic AC005610.1 (105694..223408) None
    genomic AC010433.9 (4714..258929) None
    genomic AC010626.6 (154038..160312) None
    genomic AC113390.3 (22452..196545) None
    genomic AC127460.2 (37274..43434) None
    genomic AMYH01014905.1 (448952..471422) None
    genomic AMYH01014906.1 None
    genomic AMYH01014907.1 None
    genomic AMYH01014908.1 None
    genomic AMYH01014909.1 None
    genomic CH471102.2 EAX08053.1
      EAX08054.1
      EAX08055.1
    genomic EU350953.1 ABY59658.1
    mRNA AB013805.1 BAA36163.1
    mRNA AF035302.1 AAB88185.1
    mRNA AK127257.1 BAG54466.1
    mRNA AK226124.1 None
    mRNA AK294420.1 BAG57669.1
    mRNA AK296232.1 BAG58953.1
    mRNA AK299300.1 BAG61314.1
    mRNA BF512945.1 None
    mRNA EU328348.1 ACA13456.1
    mRNA U52351.1 AAB97957.1
    mRNA U52828.1 AAB96357.1
    mRNA U72665.1 AAB68599.1
    mRNA U81004.1 AAD00453.1
    mRNA U96136.1 AAC63103.1
    other-genetic BC111837.3 AAI11838.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UQB3.3 GenPept UniProtKB/Swiss-Prot:Q9UQB3

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • GAP
        GAP Links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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